Generación de líneas de células madre pluripotentes inducidas a partir de pacientes con distrofia muscular de Emery-Dreifuss

Video Experimental Relacionado

Updated: Feb 16, 2026

Generation of Induced Pluripotent Stem Cells from Muscular Dystrophy Patients: Efficient Integration-free Reprogramming of Urine Derived Cells

Generation of Induced Pluripotent Stem Cells from Muscular Dystrophy Patients: Efficient Integration-free Reprogramming of Urine Derived Cells

Published on: January 28, 2015

Mey-Sam Chorsi¹, Byron J W H Mui¹, Renke Tan¹

¹Stanford Cardiovascular Institute, Stanford University School of Medicine, Stanford, CA 94305, USA; Department of Medicine, Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford, CA 94305, USA.

Stem cell research

|February 14, 2026

Abstract:

Emery-Dreifuss muscular dystrophy (EDMD) stems from pathogenic variants in LMNA. We generated two patient-specific iPSC lines from peripheral blood: SCVIi145-A carrying LMNA c.241T > C (p.Tyr81His) and SCVIi146-A carrying LMNA c.357-2A > G. Non-integrating Sendai reprogramming produced stable colonies that expressed undifferentiated human induced pluripotent stem cell (iPSC) state markers, cleared vector RNA by passage 16, and showed normal copy-number profiles by low-pass whole-genome sequencing (LP-WGS). Both lines matched donor STR profiles and formed ectoderm, mesoderm, and endoderm in directed differentiation. These lines enable studies of lamin-associated nuclear defects and support cardiac and skeletal muscle disease modeling.

Palabras clave:

células madre pluripotentes inducidas distrofia muscular de Emery-Dreifuss LMNA biología de células madre investigación biomédica genética

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